Doctors may have identified a gene that causes left ventricular noncompaction

23rd May 2016

Children’s doctors in America say they may have identified a gene causing left ventricular non-compaction (LVNC) in their young patients.

In LVNC, the muscular wall of the main pumping chamber of the heart (the left ventricle) appears to be spongy and noncompacted.  It is thought the problem develops in the womb.

The researchers, from three children’s hospitals, say that gene mutations for the condition can be found in around a third of  people with the condition.

They studied the cases of fifty one young patients with LVNC with a dilated left ventricle and reduced function of the left ventricle.

They found that five children (ten per cent) had mutations on the fibrillin-1 gene (FBN1). They said that mutations on FBN1 might affect the compaction process that causes LVNC.

Though the cause had not been proven, it raised interest in the gene mutations as a cause.

The researchers were from the Riley Hospital for Children in Indianapolis, Le Bonheur Children’s Hospital in Memphis and the Cincinnati Children’s Hospital.

The research was published earlier this month in Paediatric Cardiology.